List of variants studied for constitutional neutropenia by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	rs140963213	0.00275
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)	rs149531438	0.00074
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg)	rs200059719	0.00029
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His)	rs564880597	0.00006
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala)	rs372625091	0.00004
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu)	rs760166376	0.00002
NM_001972.4(ELANE):c.419C>T (p.Ala140Val)	rs538255080	0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln)	rs748191084	0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)	rs761972356	0.00001
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met)	rs1318142770	0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys)	rs368290618	0.00001
NM_001972.4(ELANE):c.788C>A (p.Ala263Asp)
NM_006019.4(TCIRG1):c.1970ACCGCC[3] (p.657HR[3])	rs1565163569
NM_006118.4(HAX1):c.124G>T (p.Gly42Cys)
NM_024598.4(USB1):c.74G>C (p.Arg25Thr)	rs772792606

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